Tyler Mark Pierson
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Explore the profile of Tyler Mark Pierson including associated specialties, affiliations and a list of published articles.
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42
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1061
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Recent Articles
11.
Schirwani S, Albaba S, Carere D, Guillen Sacoto M, Milan Zamora F, Si Y, et al.
Am J Med Genet A
. 2021 Aug;
185(11):3446-3458.
PMID: 34436830
The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we...
12.
Wiessner M, Maroofian R, Ni M, Pedroni A, Muller J, Stucka R, et al.
Brain
. 2021 May;
144(5):1422-1434.
PMID: 33970200
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL...
13.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Zarate Y, Bosanko K, Thomas M, Miller D, Cusmano-Ozog K, Martinez-Monseny A, et al.
Clin Genet
. 2020 Dec;
99(4):547-557.
PMID: 33381861
SATB2-Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (ΔSAS) have...
14.
Shieh C, Jones N, Vanle B, Au M, Huang A, Silva A, et al.
Genet Med
. 2020 Feb;
22(4):822.
PMID: 32047287
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
15.
Hengel H, Bosso-Lefevre C, Grady G, Szenker-Ravi E, Li H, Pierce S, et al.
Nat Commun
. 2020 Feb;
11(1):595.
PMID: 32001716
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from...
16.
Shieh C, Jones N, Vanle B, Au M, Huang A, Silva A, et al.
Genet Med
. 2020 Jan;
22(5):878-888.
PMID: 31949314
Purpose: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND). Methods: Fifty GAND subjects were evaluated to determine consistent genotypic/phenotypic features. Immunoprecipitation assays utilizing in vitro transcription-translation products were used...
17.
Pierson T, Otero M, Grand K, Choi A, Graham Jr J, Young J, et al.
Am J Med Genet C Semin Med Genet
. 2019 Nov;
181(4):548-556.
PMID: 31737996
The nucleosome remodeling and deacetylase (NuRD) complex is a major regulator of gene expression involved in pluripotency, lineage commitment, and corticogenesis. This important complex is composed of seven different proteins,...
18.
Souza I, Gandini M, Zhang F, Mitchell W, Matsumoto J, Lerner J, et al.
Mol Brain
. 2019 Oct;
12(1):86.
PMID: 31651342
Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child. Both variants were expressed...
19.
Johnson B, Kumar R, Oishi S, Alexander S, Kasherman M, Vega M, et al.
Biol Psychiatry
. 2019 Aug;
87(2):100-112.
PMID: 31443933
Background: The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo...
20.
Nabais Sa M, Jensik P, McGee S, Parker M, Lahiri N, McNeil E, et al.
Genet Med
. 2019 Mar;
21(9):2059-2069.
PMID: 30923367
Purpose: To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro. Methods: We assembled...